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NM_000484.4(APP):c.2147T>C (p.Ile716Thr) AND not provided

Germline classification:
not provided (1 submission)
Review status:
no classification provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000084574.1

Allele description [Variation Report for NM_000484.4(APP):c.2147T>C (p.Ile716Thr)]

NM_000484.4(APP):c.2147T>C (p.Ile716Thr)

Gene:
APP:amyloid beta precursor protein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
21q21.3
Genomic location:
Preferred name:
NM_000484.4(APP):c.2147T>C (p.Ile716Thr)
HGVS:
  • NC_000021.9:g.25891786A>G
  • NG_007376.2:g.284343T>C
  • NM_000484.4:c.2147T>CMANE SELECT
  • NM_001136016.3:c.2075T>C
  • NM_001136129.3:c.1754T>C
  • NM_001136130.3:c.1979T>C
  • NM_001136131.3:c.1817T>C
  • NM_001204301.2:c.2093T>C
  • NM_001204302.2:c.2036T>C
  • NM_001204303.2:c.1868T>C
  • NM_001385253.1:c.1979T>C
  • NM_201413.3:c.2090T>C
  • NM_201414.3:c.1922T>C
  • NP_000475.1:p.Ile716Thr
  • NP_001129488.1:p.Ile692Thr
  • NP_001129601.1:p.Ile585Thr
  • NP_001129602.1:p.Ile660Thr
  • NP_001129603.1:p.Ile606Thr
  • NP_001191230.1:p.Ile698Thr
  • NP_001191231.1:p.Ile679Thr
  • NP_001191232.1:p.Ile623Thr
  • NP_001372182.1:p.Ile660Thr
  • NP_958816.1:p.Ile697Thr
  • NP_958817.1:p.Ile641Thr
  • NC_000021.8:g.27264098A>G
  • NG_007376.1:g.284035T>C
Protein change:
I585T
Links:
dbSNP: rs63750851
NCBI 1000 Genomes Browser:
rs63750851
Molecular consequence:
  • NM_000484.4:c.2147T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001136016.3:c.2075T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001136129.3:c.1754T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001136130.3:c.1979T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001136131.3:c.1817T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001204301.2:c.2093T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001204302.2:c.2036T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001204303.2:c.1868T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385253.1:c.1979T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_201413.3:c.2090T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_201414.3:c.1922T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000116710VIB Department of Molecular Genetics, University of Antwerp
no classification provided
not providednot providednot provided

Description

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot provided1not providedliterature only

Details of each submission

From VIB Department of Molecular Genetics, University of Antwerp, SCV000116710.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot providednot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Apr 20, 2024